Sentence examples for mutations and complex from inspiring English sources

DNA sequencing and other laboratory techniques provide detailed information on systems involving several mutations and complex gene interactions.

Mendelian disease variants, recurrent cancer somatic mutations, and complex disease variants show higher enrichment within transcription insulator regions than cancer predisposing germline variants.

By and large, the GERP score of the disease variants gradually decrease in the order of Mendelian disease variants, cancer predisposing germline variants, recurrent cancer somatic mutations, and complex disease variants.

Subsequent statistical analysis uncovered reliable and selective markers that can distinguish samples harboring deficiencies of complex I, complex IV caused by SURF1 and SCO2 mutations, and complex V on the basis of TMEM70 mutations.

However, our MA experiment is large enough that we predicted we would see an increase in the rate of double mutations and complex mutations in Sc. pombe compared to S. cerevisiae, assuming these events are indeed caused by repair of double-stranded breaks.

In normal cells, the DNA double-strand breaks are fixed by repair mechanisms involving BRCA1; in cells lacking BRCA1, these lesions are repaired by error-prone systems, such as nonhomologous end joining, with the consequent accumulation of mutations and complex chromosomal rearrangements that ultimately lead to cell death [ 62].

To date, 688 COL4A5 mutations have been identified according to the Human Gene Mutation Database (http://www.hgmd.org/), including missense, nonsense, deletion, splicing mutation, and complex rearrangements [ 17, 20], without identification of any mutation hot spot.

This model will apply to cases with intermediate or normal cytogenetic risk; a different leukemogenesis pathway linked to genetic instability may be involved in cases with TP53 mutation and complex karyotype [ 112].

OV90, derived from a long-term passage of undifferentiated adenocarcinoma of malignant ovarian ascites, exhibits the molecular genetic characteristics of HGSC, which includes the presence of a somatic TP53 mutation and complex genomic rearrangements overlapping the spectrum of anomalies observed in HGSCs [ 15, 19].

But microsatellite markers are less efficient in population-based genetic association analysis and have rarely been used in the search for low-penetrance alleles using unrelated subjects [ 5, 6], partly due to their relatively high mutation rate and complex mutation patterns.

Size homoplasy is more common in repetitive regions because of the higher mutation rate and complex mutational mechanisms compared to nucleotide substitutions and insertions/deletions involving longer stretches of nucleotides (Provan et al., 2001; Vachon and Freeland, 2011).